ABSTRACT
NUT carcinoma is an aggressive malignancy defined genetically by a balanced translocation of the NUT gene on chromosome 15q14, most commonly associated with the bromodomain-containing protein 4 (BRD4) gene on 19p13.1 but less frequently with variant genes, including BRD3 and NSD-3. We present a case report of a metastatic pulmonary NUT carcinoma found to have a BRD3-NUT fusion and to have only focal pan-cytokeratin staining. Biopsy of the pulmonary mass revealed dyscohesive cells with enlarged nuclei, prominent nucleoli and high nuclear to cytoplasmic ratio without areas of squamous differentiation. Initial immunohistochemical stains were positive for NUT, p63 and retained SMARCA4, while negative for Lu-5 (pan-cytokeratin), TTF-1, p40, S100 protein, OCT-4, HMB-45, SMA, and PAX-8. Tempus ×T assay revealed a BRD3-NUTM1 fusion gene. Post-mortem analysis revealed an ill-defined mass abutting the trachea and superior vena cava, as well as a perirenal mass.
Subject(s)
Carcinoma , Nuclear Proteins , Humans , Nuclear Proteins/genetics , Oncogene Proteins, Fusion/genetics , Vena Cava, Superior/pathology , Transcription Factors/genetics , Carcinoma/pathology , DNA Helicases , Cell Cycle ProteinsABSTRACT
We present a 66-year-old female with a glomus tumor diagnosed by fine-needle aspiration (FNA) at the subungual region of her left second toe. Cytologic findings include cohesive clusters of round, uniform cells with scant cytoplasm. Nuclei were monotonous with fine chromatin. No cellular atypia, nuclear inclusions, mitotic figures, nor nucleoli were identified. Cells were surrounded by thick wisps of magenta colored myxoid material reminiscent of a pleomorphic adenoma. Few spindle shaped cells could be seen near the border of the tumor clusters. Staining was positive for alpha-smooth muscle actin. This case report presents one of few FNA diagnosed glomus tumors.